ClinVar Miner

Submissions for variant NM_001277313.2(FMN1):c.2718G>A (p.Pro906=)

gnomAD frequency: 0.00075  dbSNP: rs370019638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000342432 SCV000342035 benign not specified 2017-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556307 SCV004278024 benign not provided 2024-05-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003556307 SCV005293582 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004755845 SCV005346788 likely benign FMN1-related disorder 2024-06-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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